Variant report

Variant	rs1183347
Chromosome Location	chr10:61667592-61667593
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr10:61667589-61668528	GM12878	blood:	n/a	n/a
2	JUN	chr10:61667378-61668623	K562	blood:	n/a	chr10:61667781-61667794
3	MYC	chr10:61667457-61668557	K562	blood:	n/a	n/a
4	ZNF384	chr10:61666334-61667804	GM12878	blood:	n/a	n/a
5	FOXA1	chr10:61667366-61667600	T-47D	breast:	n/a	chr10:61667461-61667476
6	MTA3	chr10:61667174-61668457	GM12878	blood:	n/a	n/a
7	ATF2	chr10:61667526-61668554	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr10:61667574-61668650	MCF10A-Er-Src	breast:	n/a	n/a
9	CHD1	chr10:61666163-61668331	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr10:61667358-61668585	K562	blood:	n/a	n/a
11	MAX	chr10:61667412-61668533	NB4	blood:	n/a	n/a
12	FOXA1	chr10:61667184-61667656	HepG2	liver:	n/a	chr10:61667461-61667476
13	ZNF384	chr10:61667588-61668690	K562	blood:	n/a	n/a
14	YY1	chr10:61667591-61668003	ECC-1	luminal epithelium:	n/a	n/a
15	BHLHE40	chr10:61666064-61667793	GM12878	blood:	n/a	n/a
16	EBF1	chr10:61667421-61667905	GM12878	blood:	n/a	n/a
17	CHD2	chr10:61667558-61667919	K562	blood:	n/a	n/a
18	IRF1	chr10:61666168-61668942	K562	blood:	n/a	chr10:61667506-61667517 chr10:61667505-61667519 chr10:61667497-61667517 chr10:61667505-61667516 chr10:61667503-61667516 chr10:61667129-61667149 chr10:61667482-61667492 chr10:61668056-61668076 chr10:61668006-61668013 chr10:61666670-61666683 chr10:61667505-61667515 chr10:61666669-61666683 chr10:61667503-61667516 chr10:61667504-61667518 chr10:61667481-61667493 chr10:61667301-61667315 chr10:61667503-61667517 chr10:61667502-61667519 chr10:61666671-61666685 chr10:61667041-61667055 chr10:61667504-61667521 chr10:61667501-61667515 chr10:61667504-61667516 chr10:61667502-61667516 chr10:61667503-61667516
19	POLR2A	chr10:61664545-61668549	GM12878	blood:	n/a	n/a
20	EP300	chr10:61667399-61668666	K562	blood:	n/a	chr10:61667552-61667560
21	BRCA1	chr10:61667494-61668724	Hela-S3	cervix:	n/a	chr10:61667604-61667611
22	EP300	chr10:61666250-61667844	GM12878	blood:	n/a	chr10:61667552-61667560 chr10:61667040-61667054 chr10:61667042-61667056 chr10:61667118-61667132 chr10:61667125-61667139
23	JUND	chr10:61667393-61668527	K562	blood:	n/a	n/a
24	POLR2A	chr10:61667365-61668671	K562	blood:	n/a	n/a
25	POLR2A	chr10:61665795-61668532	MCF10A-Er-Src	breast:	n/a	n/a
26	PML	chr10:61667536-61668574	GM12878	blood:	n/a	n/a
27	POLR2A	chr10:61664051-61668605	GM12891	blood:	n/a	n/a
28	JUND	chr10:61667458-61668611	T-47D	breast:	n/a	n/a
29	ARID3A	chr10:61667540-61668663	K562	blood:	n/a	n/a
30	TBP	chr10:61666172-61668829	Hela-S3	cervix:	n/a	n/a
31	ATF2	chr10:61667534-61668628	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF3	chr10:61667592-61668014	K562	blood:	n/a	n/a
33	EP300	chr10:61667487-61668495	T-47D	breast:	n/a	chr10:61667552-61667560
34	YY1	chr10:61667588-61667975	GM12878	blood:	n/a	n/a
35	GATA3	chr10:61667353-61668515	T-47D	breast:	n/a	n/a
36	ATF2	chr10:61667352-61668051	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:61667574-61668621	U87	brain:	n/a	n/a
38	POLR2A	chr10:61667491-61668615	MCF10A-Er-Src	breast:	n/a	n/a
39	YY1	chr10:61667581-61668029	GM12878	blood:	n/a	n/a
40	STAT3	chr10:61667578-61668529	MCF10A-Er-Src	breast:	n/a	chr10:61667921-61667929 chr10:61668292-61668303
41	GTF2F1	chr10:61667395-61668518	Hela-S3	cervix:	n/a	n/a
42	RUNX3	chr10:61667310-61668721	GM12878	blood:	n/a	n/a
43	TEAD4	chr10:61667577-61668600	K562	blood:	n/a	n/a
44	GATA3	chr10:61667349-61668511	T-47D	breast:	n/a	n/a
45	MXI1	chr10:61664579-61667795	GM12878	blood:	n/a	chr10:61666712-61666721
46	IRF1	chr10:61666203-61668600	K562	blood:	n/a	chr10:61667506-61667517 chr10:61667505-61667519 chr10:61667497-61667517 chr10:61667505-61667516 chr10:61667503-61667516 chr10:61667129-61667149 chr10:61667482-61667492 chr10:61668056-61668076 chr10:61668006-61668013 chr10:61666670-61666683 chr10:61667505-61667515 chr10:61666669-61666683 chr10:61667503-61667516 chr10:61667504-61667518 chr10:61667481-61667493 chr10:61667301-61667315 chr10:61667503-61667517 chr10:61667502-61667519 chr10:61666671-61666685 chr10:61667041-61667055 chr10:61667504-61667521 chr10:61667501-61667515 chr10:61667504-61667516 chr10:61667502-61667516 chr10:61667503-61667516
47	POLR2A	chr10:61667587-61668747	H1-hESC	embryonic stem cell:	n/a	n/a
48	TBL1XR1	chr10:61667418-61668431	GM12878	blood:	n/a	n/a
49	ZMIZ1	chr10:61665765-61668505	K562	blood:	n/a	n/a
50	YY1	chr10:61667582-61668585	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:61667557..61668357-chr7:35734692..35735246,2	NB4	blood:
2	chr10:61667263..61669054-chr10:61680028..61682493,2	MCF-7	breast:
3	chr10:61666623..61668608-chr10:61670476..61672736,2	MCF-7	breast:
4	chr10:61667421..61670860-chr10:61671929..61674509,5	K562	blood:
5	chr10:61667520..61669749-chr10:61807482..61809424,2	MCF-7	breast:
6	chr10:61666876..61669628-chr10:61791272..61793178,2	MCF-7	breast:
7	chr10:61632812..61634893-chr10:61666626..61669207,2	K562	blood:
8	chr10:61666832..61668481-chr10:61785345..61787777,2	K562	blood:
9	chr10:61666545..61669325-chr10:61676846..61678686,2	MCF-7	breast:

Variant related genes	Relation type
CCDC6	TF binding region
ENSG00000122557	Chromatin interaction
ENSG00000271122	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1171833	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11817261	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11819256	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12572828	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12573055	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1664276	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1664278	0.95[EUR][1000 genomes]
rs1664279	0.95[EUR][1000 genomes]
rs1664280	0.95[EUR][1000 genomes]
rs1664281	0.95[EUR][1000 genomes]
rs1684904	0.95[EUR][1000 genomes]
rs1684916	0.94[EUR][1000 genomes]
rs17793021	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1972950	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2440916	0.96[EUR][1000 genomes]
rs2440918	0.94[EUR][1000 genomes]
rs2450462	0.94[EUR][1000 genomes]
rs2450463	0.94[EUR][1000 genomes]
rs2450464	0.84[EUR][1000 genomes]
rs3763743	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3763745	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3793866	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4948249	0.81[AMR][1000 genomes]
rs56221953	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61845881	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61845882	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61845883	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61845885	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7478076	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795420	chr10:61637271-61669227	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	esv1800316	chr10:61639599-61700473	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:61663400-61668400	Active TSS	Aorta	Aorta
2	chr10:61664200-61668800	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr10:61664600-61668800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr10:61664800-61667800	Active TSS	Fetal Intestine Small	intestine
5	chr10:61664800-61668600	Active TSS	Right Atrium	heart
6	chr10:61664800-61668800	Active TSS	Stomach Smooth Muscle	stomach
7	chr10:61665000-61668400	Active TSS	NHLF	lung
8	chr10:61665000-61668600	Active TSS	Fetal Stomach	stomach
9	chr10:61665000-61668800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:61665200-61668800	Active TSS	Brain Angular Gyrus	brain
11	chr10:61665200-61668800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr10:61665400-61667800	Active TSS	Thymus	Thymus
13	chr10:61665400-61668600	Active TSS	Colonic Mucosa	Colon
14	chr10:61665400-61668600	Active TSS	GM12878-XiMat	blood
15	chr10:61665400-61668800	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr10:61665800-61668400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr10:61665800-61668600	Active TSS	Brain Germinal Matrix	brain
18	chr10:61666600-61668600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr10:61666600-61668600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr10:61666600-61668600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:61666600-61668600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:61666600-61668600	Flanking Active TSS	Liver	Liver
23	chr10:61666600-61668800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr10:61666600-61668800	Flanking Active TSS	HUVEC	blood vessel
25	chr10:61666600-61669000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr10:61666800-61667600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:61666800-61667600	Flanking Active TSS	Brain Cingulate Gyrus	brain
28	chr10:61666800-61667600	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr10:61666800-61667600	Flanking Active TSS	NHDF-Ad	bronchial
30	chr10:61666800-61667800	Flanking Active TSS	Osteobl	bone
31	chr10:61666800-61668000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr10:61666800-61668000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr10:61666800-61668000	Flanking Active TSS	Stomach Mucosa	stomach
34	chr10:61666800-61668000	Flanking Active TSS	HSMM	muscle
35	chr10:61666800-61668200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr10:61666800-61668200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr10:61666800-61668200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:61666800-61668200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:61666800-61668200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr10:61666800-61668200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr10:61666800-61668200	Flanking Active TSS	Hela-S3	cervix
42	chr10:61666800-61668400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr10:61666800-61668400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:61666800-61668400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr10:61666800-61668400	Flanking Active TSS	HMEC	breast
46	chr10:61666800-61668600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr10:61666800-61668600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
48	chr10:61666800-61668600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr10:61666800-61668600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr10:61666800-61668600	Flanking Active TSS	Dnd41	blood

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